Rheumatoid arthritis? Systemic lupus erythematosus? – Fabry disease

Grigorieva E.V., Stolyarevich E.S., Starikov D.V., Magdeeva N.A., Kondrashova I.A., Zhokhova T.P., Pasechnaya N.V.

1) Saratov State Medical University named after V.I. Razumovsky, Saratov, Russia; 2) A.I. Yevdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia; 3) City Clinical Hospital No. 52, Moscow, Russia; 4) Regional Clinical Hospital, Saratov, Russia

Background. Fabry disease (FD) is a hereditary disorder caused by a decrease or complete absence of the α-galactosidase enzyme. It is characterized by a variety of clinical manifestations, which makes its diagnosis difficult.
Objective. Demonstration of clinical «masks» of Fabry disease using the case history of patient M.
Description of the clinical case. Patient M., 32 years old. Since the age of 7, he had noted acroparesthesia, hypohidrosis, periodic subfebrile temperature, lymphadenopathy, and later the appearance of proteinuria. Rheumatoid arthritis and systemic lupus erythematosus were suggested; methotrexate and methylprednisolone were prescribed – without effect. Based on the results of a nephrobiopsy, Fabry disease was suspected. The diagnosis was confirmed by molecular genetic and biochemical studies. Agalsidase α was prescribed, against this background, the severity of symptoms decreased.
Conclusion. Fabry disease is a rare disease that is difficult to diagnose. Renal biopsy is not the primary diagnostic method for Fabry disease, but in this case it was crucial for its verification, which provided adequate therapy and improvement of the patient’s condition.

Keywords

About the Authors

Elena V. Grigoryeva – Cand.Sci. (Med.), Associate Professor at the Department of Hospital Therapy, Faculty of General Medicine, Saratov State Medical University
named after V.I. Razumovsky. Address: 112 Bolshaya Kazachya st., Saratov, 410012; e-mail: lek133@yandex.ru. ORCID: https://orcid.org/0000-0001-6064-560X.
Ekaterina S. Stolyarevich – Dr.Sci. (Med.), Professor at the Department of Nephrology, Faculty of Postgraduate Education, A.I. Yevdokimov Moscow State University
of Medicine and Dentistry, Physician at the Pathological Anatomy Department, City Clinical Hospital No. 52, Moscow Healthcare Department.
Address: 3 Pekhotnaya st., Moscow, 123182. ORCID: https://orcid.org/0000-0002-0402-8348.
Dmitry V. Starikov – Physician at the Pathological Anatomy Department, City Clinical Hospital No. 52, Moscow Healthcare Department. Address: 3 Pekhotnaya st., Moscow, 123182; e-mail: dmitrij.starikov.6991@gmail.com. ORCID: https://orcid.org/0000-0002-0604-9521.
Nadezhda A. Magdeeva – Cand.Sci. (Med.), Associate Professor oatf the Department of Hospital Therapy, Faculty of General Medicine, Saratov State Medical University named after V.I. Razumovsky. Address: 112 Bolshaya Kazachya st., Saratov, 410012; e-mail: magnad4@yandex.ru. ORCID: https://orcid.org/0000-0002-6397-3542.
Irina A. Kondrashova – 6th-year student of the Faculty of General Medicine, Saratov State Medical University named after V.I. Razumovsky.
Address: 112 Bolshaya Kazachya st., Saratov, 410012; e-mail: dolgasheva.irina@mail.ru. ORCID: 0009-0009-6267-6886.
Taisiia P. Zhokhova – 6th-year student of the Faculty of General Medicine, Saratov State Medical University named after V.I. Razumovsky.
Address: 112 Bolshaya Kazachya st., Saratov, 410012; e-mail: zhokhova2001@mail.ru. ORCID: 0009-0004-6048-8092.
Natalia V. Pasechnaya – Head of the Rheumatology Department No. 1, Regional Clinical Hospital. Address: Bldg. 1, 1 Smirnovskoe Ushchelye, Saratov, 410053;
e-mail: natusjok@mail.ru.

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